ClinVar Miner

Variants in gene MYH9

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Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
41 55 911 872 384 81 1904

Condition and significance breakdown #

Total conditions: 50
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 23 19 520 762 340 0 1488
MYH9-related disorder 13 15 125 117 114 1 359
not specified 0 0 91 152 62 0 293
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 5 3 206 58 2 0 274
Autosomal dominant nonsyndromic hearing loss 17 7 2 115 47 36 0 207
Inborn genetic diseases 1 1 118 26 0 0 146
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 26 22 77 3 7 15 133
Ovarian serous cystadenocarcinoma 0 0 0 0 0 10 10
Atypical hemolytic-uremic syndrome 0 0 0 0 7 0 7
Kidney disorder 0 0 2 3 2 0 7
Malignant tumor of urinary bladder 0 0 0 0 0 7 7
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 7 7
Gastric cancer 0 0 0 0 0 6 6
Macrothrombocytopenia 1 0 5 0 0 0 6
Malignant tumor of esophagus 0 0 0 0 0 6 6
Familial cancer of breast 0 0 0 0 0 5 5
Nephrotic syndrome 0 0 5 0 0 0 5
Sarcoma 0 0 0 0 0 5 5
Acute myeloid leukemia 0 0 0 0 0 4 4
Focal segmental glomerulosclerosis 0 0 1 1 2 0 4
Hearing impairment 0 0 3 0 1 0 4
Lung cancer 0 0 0 0 0 4 4
Melanoma 0 0 0 0 0 4 4
Squamous cell carcinoma of the head and neck 0 0 0 0 0 4 4
Cervical cancer 0 0 0 0 0 3 3
Colon adenocarcinoma 0 0 0 0 0 3 3
Thrombocytopenia 1 0 2 0 0 0 3
Abnormal bleeding; Thrombocytopenia 2 0 0 0 0 0 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Meniere disease 0 0 2 0 0 0 2
Proteinuria 0 0 2 0 0 0 2
Thymoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Capillary infantile hemangioma 0 1 0 0 0 0 1
Cataract 35 0 1 0 0 0 0 1
Deafness 1 0 0 0 0 0 1
Glomerulonephritis 0 0 1 0 0 0 1
Hearing loss, autosomal recessive 1 0 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 0 0 1 0 0 0 1
Kidney failure 0 0 1 0 0 0 1
May-Hegglin Disorder 0 1 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Obesity; Epistaxis; Abnormal facial shape; Numerous pigmented freckles; Abnormal platelet function; Abnormal platelet morphology; Increased mean platelet volume; Abnormal platelet shape; Thrombocytopenia; Hypertensive disorder 0 1 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Rare genetic deafness 1 0 0 0 0 0 1
Severe X-linked myotubular myopathy 0 0 0 1 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Type 1 diabetes mellitus 17 0 0 1 0 0 0 1
Vitelliform macular dystrophy 1; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 88
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 15 5 312 636 218 0 1186
GeneDx 7 5 172 121 143 0 448
Fulgent Genetics, Fulgent Genetics 5 3 200 58 2 0 268
PreventionGenetics, part of Exact Sciences 4 4 56 154 31 0 249
Illumina Laboratory Services, Illumina 0 0 108 54 114 0 188
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 45 86 43 0 175
Ambry Genetics 1 1 118 26 0 0 146
Breakthrough Genomics, Breakthrough Genomics 0 0 3 31 75 0 109
CeGaT Center for Human Genetics Tuebingen 6 3 26 61 9 0 105
Mayo Clinic Laboratories, Mayo Clinic 10 3 24 28 23 0 88
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 1 39 40 0 0 85
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 64 64
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 1 6 21 30 0 61
NIHR Bioresource Rare Diseases, University of Cambridge 12 11 14 0 0 0 37
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 12 12 11 1 0 0 35
Eurofins Ntd Llc (ga) 0 0 22 3 6 0 31
MVZ Medizinische Genetik Mainz 1 1 17 0 0 0 19
Genetic Services Laboratory, University of Chicago 2 3 7 2 3 0 17
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 2 4 11 0 17
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 17 0 17
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 9 7 0 16
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 4 10 0 16
OMIM 15 0 0 0 0 0 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 12 1 0 14
GeneReviews 0 0 0 0 0 14 14
Athena Diagnostics 0 0 2 1 10 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 1 6 0 0 0 13
3billion 6 2 3 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 8 0 0 0 11
Revvity Omics, Revvity 3 0 8 0 0 0 11
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 9 0 0 0 10
Genetics and Molecular Pathology, SA Pathology 4 3 1 0 0 0 8
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 6 2 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 0 0 0 7
Genome-Nilou Lab 0 0 0 0 7 0 7
Gharavi Laboratory, Columbia University 0 1 6 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 4 0 6
Johns Hopkins Genomics, Johns Hopkins University 1 0 4 1 0 0 6
Mendelics 2 1 2 1 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 0 5 0 0 0 6
Baylor Genetics 2 0 3 0 0 0 5
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 5 0 0 0 5
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 3 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 2 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 4 0 0 4
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 1 1 0 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 4 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 2 0 0 0 3
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 2 0 1 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
AiLife Diagnostics, AiLife Diagnostics 1 0 1 0 0 0 2
Birmingham Platelet Group; University of Birmingham 2 0 0 0 0 0 2
Center for Computational Biology & Bioinformatics, University of California, San Diego 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
Center for Statistical Genetics, Columbia University 1 0 1 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 1 0 1 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Suma Genomics 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 1 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 0 1 0 0 1
Dasa 1 0 0 0 0 0 1
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 0 1 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Kahle Lab, Yale University 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
MNM Diagnostics 1 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1
Thrombosis and Haemostasis Unit, Fondazione IRCCS "Casa Sollievo della Sofferenza" 0 1 0 0 0 0 1
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 1 0 0 0 1

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